Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: Targeted deep sequencing is useful for the detection of mosaicism

Clinical Genetics

Volumn 87, Issue 3, 2015, Pages 279-283

  Hasegawa, K ^a,b   Ohno, S ^a   Kimura, H ^a   Itoh, H ^a   Makiyama, T ^c   Yoshida, Y ^d   Horie, M ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^c KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d OSAKA CITY GENERAL HOSPITAL   (Japan)

Author keywords

Andersen Tawil syndrome; KCNJ2; Mosaicism; Sequencing

Indexed keywords

FLECAINIDE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; INWARDLY RECTIFYING POTASSIUM CHANNEL; KCNJ2 PROTEIN, HUMAN;

ADULT; ANDERSEN SYNDROME; ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; EXTRASYSTOLE; FEMALE; FETUS ECHOGRAPHY; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; HEART PALPITATION; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE TACHYCARDIA; HOLTER MONITOR; HOLTER MONITORING; HUMAN; MOSAICISM; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; OPEN READING FRAME; PRIORITY JOURNAL; QT PROLONGATION; SCHOOL CHILD; ALLELE; ELECTROCARDIOGRAPHY; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION; PEDIGREE; PHENOTYPE;

ALLELES; ANDERSEN SYNDROME; ELECTROCARDIOGRAPHY; FEMALE; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOSAICISM; MUTATION; PEDIGREE; PHENOTYPE; POTASSIUM CHANNELS, INWARDLY RECTIFYING;

EID: 84922690466     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12357     Document Type: Article

References (12)

1. Andersen ED, Krasilnikoff PA, Overvad H. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta Paediatr Scand 1971: 60: 559-564.
2. Tawil R, Ptacek LJ, Pavlakis SG et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994: 35: 326-330.
3. +-mediated vasodilation. Circ Res 2000: 87: 160-166.
4. Haruna Y, Kobori A, Makiyama T et al. Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat 2007: 28: 208.
5. Kimura H, Zhou J, Kawamura M et al. Phenotype variability in patients carrying KCNJ2 mutations. Circ Cardiovasc Genet 2012: 5: 344-353.
6. Biesecker LG, Spinner NB. A genomic view of mosaicism and human disease. Nat Rev Genet 2013: 14: 307-320.
7. Jackson AL, Loeb LA. The mutation rate and cancer. Genetics 1998: 148: 1483-1490.
8. Youssoufian H, Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 2002: 3: 748-758.
9. Forissier JF, Richard P, Briault S et al. First description of germline mosaicism in familial hypertrophic cardiomyopathy. J Med Genet 2000: 37: 132-134.
10. Miller TE, Estrella E, Myerburg RJ et al. Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. Circulation 2004: 109: 3029-3034.
11. Splawski I, Timothy KW, Sharpe LM et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004: 119: 19-31.
12. Roux-Buisson N, Egea G, Denjoy I, Guicheney P, Lunardi J. Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring. Europace 2011: 13: 130-132.